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Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence
Názov Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence Autor Sakthivel Srinivasan Spoluautori Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Surový Milan Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Saravanan Madurai P. Zdroj.dok. Annals of Human Genetics. Vol. 78, iss. 3 (2014) p. 155-164 Jazyk dok. eng - angličtina Poznámky VEGA 2/0027/12, ITMS 26240220071 Druh dok. rozpis článkov z periodík (rbx) Ohlasy BRACONI, Daniela - MILLUCCI, Lia - BERNARDINI, Giulia - SANTUCCI, Annalisa. Oxidative stress and mechanisms of ochronosis in alkaptonuria. In FREE RADICAL BIOLOGY AND MEDICINE. ISSN 0891-5849, 2015, vol. 88, no., pp. 70. DOGANAVSARGIL, Basak - PEHLIVANOGLU, Burcin - BICER, Elcil Kaya - ARGIN, Mehmet - BINGUL, Kenan Baris - SEZAK, Murat - KECECI, Burcin - COKER, Mahmut - OZTOP, Fikri. Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis. In PATHOLOGY RESEARCH AND PRACTICE. ISSN 0344-0338, 2015, vol. 211, no. 6, pp. 470. GALLAGHER, James A. - DILLON, Jane P. - SIREAU, Nicolas - TIMMIS, Oliver - RANGANATH, Lakshminarayan R. Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders. In SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY. ISSN 1084-9521, 2016, vol. 52, no., pp. 53-57. MA, Min - LUO, Shulin - WEI, Yanhui - LU, Liangyu - CAI, Junfeng - YIN, Feng. A case report of two mutations of the homogentisate 1,2-dioxygenase gene in a Chinese Alkaptonuria. In INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE. ISSN 1940-5901, 2016, vol. 9, no. 10, pp. 20372-20375. KILAVUZ, Sebile - BULUT, Fatma Derya - KOR, Deniz - YILMAZ, Berna Seker - BASARAN, Sibel - SARPEL, Tunay - MUNGAN, Neslihan Onenli. Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience. In JOURNAL OF PEDIATRIC RESEARCH. ISSN 2147-9445, 2018, vol. 5, no. 1, pp. 7-11. DAVISON, A. S. - HUGHES, A. T. - MILAN, A. M. - SIREAU, N. - GALLAGHER, J. A. - RANGANATH, L. R. Alkaptonuria Many questions answered, further challenges beckon. In ANNALS OF CLINICAL BIOCHEMISTRY. ISSN 0004-5632, 2020, vol. 57, no. 2, pp. 106-120. DANDA, Sumita - MOHAN, Sony - DEVARAJ, Prabavathi - DUTTA, Atanu K. - NAMPOOTHIRI, Sheela - YESODHARAN, Dhanya - PHADKE, Shubha R. - JALAN, Anil B. - THANGARAJ, K. - VERMA, Ishwar Chandra - DANDA, Debashish - JEBARAJ, Isaac. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. In CLINICAL RHEUMATOLOGY. ISSN 0770-3198, 2020, vol. 39, no. 9, pp. 2743-2749. Dostupné na: https://doi.org/10.1007/s10067-020-05020-8. DAI, Jiaqi - YU, Xiaqing - HAN, Yali - CHAI, Li - LIAO, Yina - ZHONG, Peng - XIE, Ruting - SUN, Xuechen - HUANG, Qingqing - WANG, Jian - YIN, Zhiqiang - ZHANG, Yun - LV, Zhongwei - JIA, Chengyou. TMT-labeling Proteomics of Papillary Thyroid Carcinoma Reveal Invasive Biomarkers. In JOURNAL OF CANCER. ISSN 1837-9664, 2020, vol. 11, no. 20, pp. 6122-6132. Dostupné na: https://doi.org/10.7150/jca.47290. KHALIL, Raida - ALI, Dema - MWAFI, Nesrin - ALSARAIREH, Arwa - OBEIDAT, Loiy - ALBSOUL, Eman - AL SBOU, Ibrahim. Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. In BIOMED RESEARCH INTERNATIONAL. ISSN 2314-6133, 2021, vol. 2021, no., pp. Dostupné na: https://doi.org/10.1155/2021/1515641. MWAFI, Nesrin R. - ALI, Dema A. - KHALIL, Raida W. - ALSBOU', Ibrahim N. - SARAIREH, Ahmad M. Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria. In AIMS MOLECULAR SCIENCE. ISSN 2372-0301, 2021, vol. 8, no. 1, pp. 60-75. Dostupné na: https://doi.org/10.3934/molsci.2021005. TAO, Lvyan - DENG, Chengjun - MA, Mingbiao - ZHANG, Yu - DUAN, Jintao - LI, Ying - FANG, Li - ZHOU, Yuantao - HE, Xiaoli - WANG, Yan - WANG, Mingying - LI, Li. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. In CLINICA CHIMICA ACTA, 2022, vol. 532, no., pp. 164-171. ISSN 0009-8981. Dostupné na: https://doi.org/10.1016/j.cca.2022.04.998. LEQUEUE, S. - NEUCKERMANS, J. - NULMANS, I. - SCHWANEBERG, U. - VANHAECKE, T. - DE KOCK, J. A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. In SCIENTIFIC REPORTS. ISSN 2045-2322, NOV 14 2022, vol. 12, no. 1. Dostupné na: https://doi.org/10.1038/s41598-022-23702-y. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2014 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1111/ahg.12055 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2014 2013 1.926 Q3 0.988 Q3
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